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Tietz syndrome

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
Uniprot Description An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.
Disease Ontology Description A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.
Mondo Term and Equivalent IDs
MONDO:0007077:  Tietz syndrome
GARD:0007772: 
MESH:C536919: 
Orphanet:42665: 
SCTID:403805009: 
UMLS:C0391816: